Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31163 | chr1 | 64860198 | C | T |
c.1241G>A
|
p.Arg414Gln
|
3.0 |
|
B | ||
| 30266 | chr1 | 64864946 | A | AT |
c.1016dup
|
p.Asn339LysfsTer2
|
- | 3.5 |
|
B | |
| 1302 | chr1 | 64866892 | C | T |
c.964G>A
|
p.Gly322Arg
|
- | 3.0 |
|
B | |
| 16957 | chr1 | 64867077 | C | T |
c.779G>A
|
p.Ser260Asn
|
- | 3.5 |
|
B | |
| 13657 | chr1 | 64867186 | T | C |
c.670A>G
|
p.Thr224Ala
|
- | 3.0 |
|
B | |
| 22434 | chr1 | 64873419 | T | C |
c.434A>G
|
p.Asp145Gly
|
3.0 |
|
B | ||
| 26650 | chr1 | 64873427 | C | CT |
c.425dup
|
p.Ile143AspfsTer9
|
- | 4.0 |
|
B | |
| 21722 | chr1 | 64873449 | T | C |
c.404A>G
|
p.Lys135Arg
|
- | 3.0 |
|
B | |
| 25787 | chr1 | 64873524 | C | A |
c.330-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 18271 | chr1 | 64873535 | G | A |
c.330-12C>T
|
-
|
- | 2.0 |
|
B | |
| 15923 | chr1 | 64883276 | C | T |
c.205+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 7262 | chr1 | 64883277 | G | A |
c.205C>T
|
p.Arg69Cys
|
3.5 |
|
B | ||
| 5685 | chr1 | 64883305 | TTCCTCTGCTGTGTACTC | T |
c.160_176del
|
p.Glu54ThrfsTer23
|
- | 4.0 |
|
B | |
| 3370 | chr1 | 65406050 | C | T |
c.2408C>T
|
p.Pro803Leu
|
- | 3.0 |
|
B | |
| 3603 | chr1 | 66682337 | CTGGCT | C |
c.1284_1288del
|
p.Ser430ProfsTer55
|
- | 3.0 |
|
B | |
| 3604 | chr1 | 66682347 | C | CCCGAG |
c.1295_1296insGAGCC
|
p.Gly433SerfsTer67
|
- | 3.0 |
|
B | |
| 15334 | chr1 | 68431059 | C | T |
c.1450+6G>A
|
-
|
- | 3.0 |
|
B | |
| 17636 | chr1 | 68431184 | T | C |
c.1339-8A>G
|
-
|
- | 3.0 |
|
B | |
| 16076 | chr1 | 68431332 | G | A |
c.1288C>T
|
p.Pro430Ser
|
3.0 |
|
B | ||
| 29147 | chr1 | 68438188 | TTGTCAATATTCAAAGGA | T |
c.1110_1126del
|
p.Pro371GlyfsTer2
|
- | 3.0 |
|
B |